Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61679807A>G , CM000679.2:g.61679807A>G | GRCh38 |
| NC_000017.10:g.59757168A>G , CM000679.1:g.59757168A>G | GRCh37 |
| NC_000017.9:g.57111950A>G | NCBI36 |
| NG_007409.2:g.188753T>C , LRG_300:g.188753T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032043.3:c.*3489T>C MANE Select | NP_114432.2:n.*3489T>C |
| ENST00000259008.7:c.*3489T>C MANE Select | ENSP00000259008.2:n.*3489T>C |
| NM_032043.2:c.*3489T>C , LRG_300t1:c.*3489T>C | NP_114432.2:n.*3489T>C |
| ENST00000682755.1:c.*3489T>C | ENSP00000507660.1:n.*3489T>C |